Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E (Q28144858)

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4 November 2019

title

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E (English)

1 reference

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Sarcoglycan, beta (dystrophin-associated glycoprotein)

4 November 2019

main subject

pathogenesis

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Sarcoglycan, delta (dystrophin-associated glycoprotein)

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Sarcoglycan, gamma (dystrophin-associated glycoprotein)

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Sarcoglycan, alpha (dystrophin-associated glycoprotein)

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limb-girdle muscular dystrophy

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4

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4 November 2019

Kevin P Campbell

8

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4 November 2019

author name string

M Durbeej

1

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4 November 2019

R D Cohn

2

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4 November 2019

R F Hrstka

3

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4 November 2019

V Allamand

5

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4 November 2019

B L Davidson

6

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4 November 2019

R A Williamson

7

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4 November 2019

language of work or name

English

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publication date

1 January 2000

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4 November 2019

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4 November 2019

volume

5

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4 November 2019

issue

1

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4 November 2019

page(s)

141-151

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Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

4 November 2019

cites work

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7 January 2021

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice

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7 January 2021

Gastric hypomotility in Duchenne's muscular dystrophy

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7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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7 January 2021

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3

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7 January 2021

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

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7 January 2021

Caveolin-3 is not an integral component of the dystrophin glycoprotein complex.

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7 January 2021

Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex

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7 January 2021

Expression of Escherichia coli beta-galactosidase and rat HPRT in the CNS of Macaca mulatta following adenoviral mediated gene transfer

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7 January 2021

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

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7 January 2021

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

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7 January 2021

Dystroglycan in development and disease.

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7 January 2021

Biochemical characterization of the epithelial dystroglycan complex

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A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

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7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

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7 January 2021

epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D

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7 January 2021

Microvascular spasm in the cardiomyopathic Syrian hamster: a preventable cause of focal myocardial necrosis

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7 January 2021

Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy

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7 January 2021

A new technique for the assay of infectivity of human adenovirus 5 DNA

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7 January 2021

Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin

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7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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7 January 2021

Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer.

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7 January 2021

Localization of dystrophin gene transcripts during mouse embryogenesis

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7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

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7 January 2021

The sarcoglycan complex in limb-girdle muscular dystrophy

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7 January 2021

Mouse adhalin: primary structure and expression during late stages of muscle differentiation in vitro

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7 January 2021

Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle.

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7 January 2021

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

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7 January 2021

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

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7 January 2021

Complementary distributions of vinculin and dystrophin define two distinct sarcolemma domains in smooth muscle

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7 January 2021

Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice

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7 January 2021

Dystrophin-associated proteins in muscular dystrophy

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7 January 2021

Dystrophin protects the sarcolemma from stresses developed during muscle contraction

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7 January 2021

Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex

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7 January 2021

Muscular dystrophies and the dystrophin-glycoprotein complex

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7 January 2021

Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.

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7 January 2021

Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster

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7 January 2021

epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex

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7 January 2021

The role of cytoskeletal proteins in cardiomyopathies

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7 January 2021

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Identifiers

DOI

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4 November 2019

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